Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37417-Loss

Xp22.31 recurrent region (includes STS) Loss
PanelMode of inheritanceDetails
1 panel
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 4.16
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ichthyosis, X-linked, OMIM:308100, ichthyosis, MONDO:0019269